Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study


Multiple sclerosis (MS) is a demyelinating autoimmune disease with a strong yet complex genetic component. To date only the HLA-DR locus, and specifically the HLA-DR15 allele, has been identified and confirmed as influencing the risk of developing MS. Genomic screens on several datasets have been performed and have identified several chromosomal regions with interesting results, but none have yet been confirmed. We tested seven of the most-promising regions (on chromosomes 1p, 2p, 3p, 3q, 5q, 19q, and Xp) identified from several genomic screens in a dataset of 98 multiplex MS families from the United States and 90 multiplex MS families from France. The results did not confirm linkage to 2p, 3q, 5q, or Xp in the overall dataset, or in subsets defined by geographic origin or HLA-DR15 status. Regions on 1p34, 3p14, and 19q13 produced lod scores >0.90 in at least one subset of the data, suggesting that these regions should be examined in more detail.

DOI: 10.1007/s10048-003-0163-y

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@article{PericakVance2004InvestigationOS, title={Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study}, author={Margaret A. Pericak-Vance and Jackie B. Rimmler and Jonathan L. Haines and Melissa E . Garcia and Jorge R. Oksenberg and Lisa F. Barcellos and Robin R. Lincoln and Stephen L. Hauser and Isabelle Cournu-Rebeix and Ari{\`e}le Azoulay-Cayla and Olivier Lyon-Caen and Bertrand Fontaine and Emmanuelle Duhamel and Helene L. Coppin and David Brassat and M P Roth and Michel G Clanet and Mehdi Alizadeh and Jacqueline Yaouanq and Erwann Quelvennec and Gilbert Semana and Gilles Edan and Marie-Claude Babron and Emmanuelle G{\'e}nin and F. Clerget-Darpoux}, journal={Neurogenetics}, year={2004}, volume={5}, pages={45-48} }